R444K (p.Arg444Lys) variant of HADHB (P55084)
R444K (p.Arg444Lys) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial trifunctional protein deficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R444K (p.Arg444Lys) variant details
- p.Arg444Lys
- rs121913134
- ClinGen CA341341
- ClinVar RCV003156217
- UniProt VAR 017409
- Pathogenic
- Mitochondrial trifunctional protein deficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.65
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.75
- ClinVar: Pathogenic (Mitochondrial trifunctional protein deficiency 2)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Structural context available
- Cited in: Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PMID 12754706)
- Cited in: Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. (PMID 19699128)